ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) rs1776322078
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402

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